http://localhost:8080/xmlui/handle/123456789/5916 65 - 142 Thu, 09 Apr 2026 04:21:24 GMT 2026-04-09T04:21:24Z http://localhost:8080/xmlui/handle/123456789/5958 Title: Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series Authors: Setyawati Muhiddin, Habibah; Rimayanti, Ulfah; Latama, Fadhlullah; Muhammad Ichsan, Andi; Nur Rahmah Akib, Marliyanti; Titirina Poli, Adelina; Budu, Budu; Pratiwi, Andi Abstract: Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series Habibah Setyawati Muhiddin, Ulfah Rimayanti, Fadhlullah Latama, Andi Muhammad Ichsan, Marliyanti Nur Rahmah Akib, Adelina Titirina Poli, Budu, Andi Pratiwi Case Report/Series ABSTRACT Waardenburg syndrome (WS) is a rare genetical disorder, characterized with pigmentary abnormalities of the eyes, skin, hair, dystopia canthorum, and sensorineural deafness. In Majene, West Sulawesi, 12 members of a 4-generation family presented manifestations of WS. We examined the presence of mutations in 5 family members with type 1 WS and the other 5 normal phenotype family members to identify mutations of PAX3 and MITF genes. Ophthalmic examination and peripheral blood test were done. Conventional polymerase chain reaction and direct Sanger sequencing were then performed to detect the mutation. 26 mutations of PAX3 gene were only identified in patients with major and minor criteria, including 7 missense mutations (substitutions) and 2 insertions in exons 1, 2, and 6, as well as 17 intronic changes in intron 8. No mutations were detected in MITF gene. KEYWORDS genes, Waardenburg syndrome Sun, 01 Jan 2023 00:00:00 GMT http://localhost:8080/xmlui/handle/123456789/5958 2023-01-01T00:00:00Z http://localhost:8080/xmlui/handle/123456789/5955 Title: Quadrigeminal plate arachnoid cyst presenting with eye movement related migraine: a rare case report Authors: Graciela, Yemima; Shen, Robert; Tjahjadi, Mardjono Abstract: Quadrigeminal plate arachnoid cyst presenting with eye movement related migraine: a rare case report Yemima Graciela1 , Robert Shen2,3, Mardjono Tjahjadi4 Case Report/Series ABSTRACT Type II arachnoid cyst of the quadrigeminal cistern is the rarest type of arachnoid cyst (10% prevalence) in adults and is generally asymptomatic. We reported an unusual case of chronic right-sided migraine provoked by right eye adduction, right eye adduction soreness, and dry eye symptoms in a 47-year-old woman with quadrigeminal arachnoid cyst confirmed by radiological findings with the compression of the tectal plate, vermis, and superomedial cerebellum’s part. She was treated conservatively without improvement for 1 year before surgical intervention was conducted. Microsurgery for cyst excision and fenestration was done, followed by immediate relief from all her complaints after 3 months of follow-up. These findings should help clinicians consider surgical intervention for patients with chronic symptoms related to nerve function that have no improvement with the initial treatment. KEYWORDS arachnoid cysts, eye movement, microsurgery, migraine disorder Sun, 01 Jan 2023 00:00:00 GMT http://localhost:8080/xmlui/handle/123456789/5955 2023-01-01T00:00:00Z http://localhost:8080/xmlui/handle/123456789/5949 Title: Behavioral change readiness among obese adolescents in Jakarta, Indonesia Authors: Friska, Dewi; Kekalih, Aria; Erlangga Putra Harimurt, Muhammad; Nabila, Deviena Abstract: Behavioral change readiness among obese adolescents in Jakarta, Indonesia Dewi Friska1 , Aria Kekalih1,2, Muhammad Erlangga Putra Harimurti3 , Deviena Nabila3 Medical Journal of Indonesia Community Research ABSTRACT BACKGROUND Prochaska’s transtheoretical model of behavioral change process, consisting of stages and processes of change, should be monitored to evaluate obesity management, particularly in adolescents. Two of four processes of change are supporting relationships, which promote behavioral change, and weight management actions, which are activities that push individuals to a particular direction in patients’ weight loss progress. This study aimed to determine the participants’ current stages of change, nutritional status, and their relationship with the processes of change. METHODS This cross-sectional study used secondary data collected in 2018 from 115 obese adolescents aged 15–21 years in Jakarta, Indonesia, using an Indonesian translated and validated questionnaire adapted from Andrés et al’s study. The questionnaire evaluated participants’ processes of change, focusing on scores of supporting relationships (5 items) and weight management actions (10 items). RESULTS Of the participants, 71.3% were classified as obese grade I, and 28.7% were obese grade II. Most participants were in the contemplation (31.3%) and action (31.3%) stages. The mean supporting relationships and weight management actions scores were different between participants with obese I and obese II (66.67 versus 80, p = 0.004; 64.17 versus 70, p = 0.008, respectively). Meanwhile, no differences were identified in supporting relationships and weight management actions scores in all stages of change. CONCLUSIONS Adolescents with obesity and higher BMI (based on the obesity grading of the WHO Asia Pacific) tended to have significantly higher scores for supporting relationships and weight management actions, indicating that external reinforcement and immediate weight loss actions played pivotal roles in readiness for behavioral change. KEYWORDS adolescent, obesity, stages of change, transtheoretical model Sun, 01 Jan 2023 00:00:00 GMT http://localhost:8080/xmlui/handle/123456789/5949 2023-01-01T00:00:00Z http://localhost:8080/xmlui/handle/123456789/5943 Title: Accuracy of machine learning models using ultrasound images in prostate cancer diagnosis: a systematic review Authors: Catherina Sihotang, Retta; Agustino, Claudio; Huang, Ficky; Parikesit, Dyandra; Rahman, Fakhri; Rizal Ardy Hariandy Hamid, Agus Abstract: Accuracy of machine learning models using ultrasound images in prostate cancer diagnosis: a systematic review Retta Catherina Sihotang1 , Claudio Agustino1 , Ficky Huang1 , Dyandra Parikesit2 , Fakhri Rahman1 , Agus Rizal Ardy Hariandy Hamid1 Medical Journal of Indonesia Clinical Research ABSTRACT BACKGROUND In prostate cancer (PCa) diagnosis, many developed machine learning (ML) models using ultrasound images show good accuracy. This study aimed to analyze the accuracy of neural network ML models in PCa diagnosis using ultrasound images. METHODS The protocol was registered with PROSPERO registration number CRD42021277309. Three reviewers independently conducted a literature search in 5 online databases (PubMed, EBSCO, Proquest, ScienceDirect, and Scopus). We included all cohort, case-control, and cross-sectional studies in English, that used neural networks ML models for PCa diagnosis in humans. Conference/review articles and studies with combination examination with magnetic resonance imaging or had no diagnostic parameters were excluded. RESULTS Of 391 titles and abstracts screened, 9 articles relevant to the study were included. Risk of bias analysis was conducted using the QUADAS-2 tool. Of the 9 articles, 5 used artificial neural networks, 1 used deep learning, 1 used recurrent neural networks, and 2 used convolutional neural networks. The included articles showed a varied area under the curve (AUC) of 0.76–0.98. Factors affecting the accuracy of artificial intelligence (AI) were the AI model, mode and type of transrectal sonography, Gleason grading, and prostate-specific antigen level. CONCLUSIONS The accuracy of neural network ML models in PCa diagnosis using ultrasound images was relatively high, with an AUC value above 0.7. Thus, this modality is promising for PCa diagnosis that can provide instant information for further workup and help doctors decide whether to perform a prostate biopsy. KEYWORDS artificial intelligence, machine learning, neural network model, prostate cancer, ultrasonography Sun, 01 Jan 2023 00:00:00 GMT http://localhost:8080/xmlui/handle/123456789/5943 2023-01-01T00:00:00Z